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Research Letter
Published online: 2021-06-16
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Novel polygenetic variants evidenced in a patient with Jervell and Lange-Nielsen syndrome

Ana Cecilia Cepeda-Nieto, Carlos Ramiro Zamora-Alemán, Mauricio Cortes-Aguirre, Roberto Valdés-Charles, Cesar Rojas-Sánchez, Mauricio Andrés Salinas-Santander, Dan Hu, Hector Barajas-Martinez
DOI: 10.5603/CJ.a2021.0063
·
Pubmed: 34165182

open access

Ahead of print
Research letter
Published online: 2021-06-16

Abstract

Not available

Abstract

Not available
Get Citation
About this article
Title

Novel polygenetic variants evidenced in a patient with Jervell and Lange-Nielsen syndrome

Journal

Cardiology Journal

Issue

Ahead of print

Article type

Research Letter

Published online

2021-06-16

DOI

10.5603/CJ.a2021.0063

Pubmed

34165182

Authors

Ana Cecilia Cepeda-Nieto
Carlos Ramiro Zamora-Alemán
Mauricio Cortes-Aguirre
Roberto Valdés-Charles
Cesar Rojas-Sánchez
Mauricio Andrés Salinas-Santander
Dan Hu
Hector Barajas-Martinez

References (11)
  1. Schulze-Bahr E, Wang Q, Wedekind H, et al. KCNE1 mutations cause jervell and Lange-Nielsen syndrome. Nat Genet. 1997; 17(3): 267–268.
  2. Mazzanti A, Priori SG. Diagnosis of long QT syndrome: time to stand up! Rev Esp Cardiol (Engl Ed). 2017; 70(11): 898–900.
  3. Clur SAB, Chockalingam P, Filippini LH, et al. The role of the epinephrine test in the diagnosis and management of children suspected of having congenital long QT syndrome. Pediatr Cardiol. 2010; 31(4): 462–468.
  4. Richards S, Aziz N, Bale S, et al. ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015; 17(5): 405–424.
  5. Antúnez-Argüelles E, Rojo-Domínguez A, Arregui-Mena AL, et al. Compound heterozygous KCNQ1 mutations (A300T/P535T) in a child with sudden unexplained death: Insights into possible molecular mechanisms based on protein modeling. Gene. 2017; 627: 40–48.
  6. Napolitano C, Priori SG, Schwartz PJ, et al. Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. JAMA. 2005; 294(23): 2975–2980.
  7. Matsushita Y, Furukawa T, Kasanuki H, et al. Mutation of junctophilin type 2 associated with hypertrophic cardiomyopathy. J Hum Genet. 2007; 52(6): 543–548.
  8. Piippo K, Swan H, Pasternack M, et al. A founder mutation of the potassium channel KCNQ1 in long QT syndrome: implications for estimation of disease prevalence and molecular diagnostics. J Am Coll Cardiol. 2001; 37(2): 562–568.
  9. Eddy CA, MacCormick JM, Chung SK, et al. Identification of large gene deletions and duplications in KCNQ1 and KCNH2 in patients with long QT syndrome. Heart Rhythm. 2008; 5(9): 1275–1281.
  10. Chen L, Marquardt ML, Tester DJ, et al. Mutation of an A-kinase-anchoring protein causes long-QT syndrome. Proc Natl Acad Sci USA. 2007; 104(52): 20990–20995.
  11. Nof E, Barajas-Martinez H, Eldar M, et al. LQT5 masquerading as LQT2: a dominant negative effect of KCNE1-D85N rare polymorphism on KCNH2 current. Europace. 2011; 13(10): 1478–1483.

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